MPS and Peroxisomal Disorders

Question 1

Heparin sulphate abundant in ___

Answer 1

Brain

Question 2

Keratin sulphate abundant in___

Answer 2

Skeleton

Question 3

Derma tan sulphate abundant in___

Answer 3

Skeleton

Question 4

MPS I called ____

Answer 4

Hurler Syndrome

Question 5

MPS I Features

Answer 5

Umbilical Hernia
Upper Resp Infections
Coarse Facial Features; Corneal Clouding
Dysostkosis Multiplex
Dev delay

Question 6

MPS I Inheritance and Gene

Answer 6

AR, IDUA

Question 7

MPS I, 2 forms of treatment

Answer 7

HSCT

ERT

Question 8

MPS II called ____

Answer 8

Hunter Syndrome

Question 9

MPS II Features

Answer 9

Umbilical Hernia
Upper Resp Infections
Coarse facial features
No corneal clouding* 
Dysostkosis multiplex
Dev delay

Question 10

MPS II inheritance and gene

Answer 10

AR; IDS

Question 11

MPS II Treatment

Answer 11

HSCT

ERT

Question 12

MPS III called ____

Answer 12

Sanfillippo Syndrome

Question 13

MPS III Features

Answer 13

Behaviour changes
Progressive neurodegeneration
No organomegaly/clouding

Question 14

MPS III inheritance and genes

Answer 14

AR, 4 genes

Question 15

MPS IV called ____

Answer 15

Morquio Syndrome

Question 16

MPS IV Features

Answer 16

Skeletal findings- short stature 
Corneal clouding
Valvular heart disease 
Hearing impairment 
Resp. insufficiency

Question 17

MPS IV inheritance and genes

Answer 17

AR; GALNS

Question 18

MPS IV Treatment

Answer 18

ERT

Orthopedic

Question 19

MPS VI called ___

Answer 19

Marateuax-Lamy

Question 20

MPS VI Features

Answer 20

Short stature
Progressive facial coarsening 
Corneal clouding
Cardioresp. disease
Organomegaly 
Dysostosis multiplex

Question 21

MPS VI inheritance and gene

Answer 21

AR; ARSB

Question 22

MPS VII called ____

Answer 22

Sly Syndrome

Question 23

MPS VII Features

Answer 23

Dysostkosis Multiplex
Organomegaly
Coarse Features
Neurodegeneration
Corneal Clouding

Question 24

MPS VII inheritance and gene

Answer 24

AR; GUSB

Question 25

2 categories of Peroxisomal Disorders

Answer 25

Peroxisome Biogenesis Disorders | Isolated Enzyme Defects

Question 26

X-Linked Adrenoleukodystrophy inheritance and gene

Answer 26

XLR; ABCD1

Question 27

XL-ALD Features

Answer 27

Males initially normal Develop behaviour, school problems, vision loss Rapid neurodegeneration

Question 28

Forms of XL-ALD

Answer 28

Childhood Cerebral Leukodystrophy Adrenomyeloneuropathy Isolated Addisons

Question 29

XL-ALD Treatments

Answer 29

Corticosteroid Replacement HSCT/BMT Lorenzo's oil

Question 30

Zellweger Syndrome Spectrum 3 major phenotypes

Answer 30

Zellweger Syndrome Neonatal adrenoleukodystrophy Infantile Refsum Disease

Question 31

Zellweger Syndrome inheritance and genes

Answer 31

AR, PEX

Question 32

Zellweger Syndrome Features

Answer 32

``` Hypotonia Seizures FTT Liver cysts and dysfunction Chondrodysplasia Punctata Dev. stagnation Dysmorphism ```

Question 33

Zellweger Treatment

Answer 33

Supportive Only